A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2812



Internal ID15200689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:85672821..85702144hg38UCSC Ensembl
Outerchr2:85899944..85929267hg19UCSC Ensembl
Outerchr2:85753455..85782778hg18UCSC Ensembl
Outerchr2:85811602..85840925hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3829324
hg1929324
hg1829324
hg1729324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7516
SamplesNA12156
Known GenesGNLY
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv2812
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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